Rare ribosomopathies: insights into mechanisms of cancer.,Nature Reviews Cancer

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Rare ribosomopathies: insights into mechanisms of cancer.
Nature Reviews Cancer ( IF 72.5 ) Pub Date : 2019-04-01 , DOI: 10.1038/s41568-019-0105-0
Anna Aspesi ₁ , Steven R Ellis ₂

Affiliation

Long thought to be too big and too ubiquitous to fail, we now know that human cells can fail to make sufficient amounts of ribosomes, causing a number of diseases collectively known as ribosomopathies. The best characterized ribosomopathies, with the exception of Treacher Collins syndrome, are inherited bone marrow failure syndromes, each of which has a marked increase in cancer predisposition relative to the general population. Although rare, emerging data reveal that the inherited bone marrow failure syndromes may be underdiagnosed on the basis of classical symptomology, leaving undiagnosed patients with these syndromes at an elevated risk of cancer without adequate counselling and surveillance. The link between the inherited ribosomopathies and cancer has led to greater awareness that somatic mutations in factors involved in ribosome biogenesis may also be drivers in sporadic cancers. Our goal here is to compare and contrast the pathophysiological mechanisms underpinning ribosomopathies to gain a better understanding of the mechanisms that predispose these disorders to cancer.

中文翻译：

罕见的核糖体病：洞悉癌症的机制。

长期以来，人们一直认为人类细胞可能无法制造出足够数量的核糖体，从而导致许多疾病，这些疾病统称为核糖体病。除Treacher Collins综合征外，最具特征性的核糖体病是遗传性骨髓衰竭综合征，相对于普通人群，每一种都有明显的癌症易感性增加。尽管很少见，但新出现的数据表明，遗传性骨髓衰竭综合征可能无法根据经典症状进行诊断，从而使未诊断出的这些综合征患者患上癌症的风险升高，而没有足够的咨询和监视。遗传的核糖体病与癌症之间的联系已导致人们更加认识到，与核糖体生物发生有关的因素中的体细胞突变也可能是散发性癌症的驱动因素。我们的目标是比较和对比支持核糖体病的病理生理机制，以更好地了解使这些疾病易患癌症的机制。

更新日期：2019-05-16

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